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First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis |
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| Authors: | Lucia Santoro Chiara Monachesi Lucia Zampini Lucia Padella Tiziana Galeazzi Elena Santori Rosanna Cordiali Andrea Dardis Carlo Catassi Emilia Boccieri Federica Galaverna Franco Locatelli |
| Affiliation: | 1. Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy;2. Regional Coordinator Centre for Rare Diseases, Academic Hospital “Santa Maria della Misericordia”, Udine, Italy;3. Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy The Division of Pediatric Gastroenterology and Nutrition and Center for Celiac Research, Mass General Hospital for Children, Boston, Massachusetts, USA;4. Department of Pediatric Hematology and Oncology and Cell and Gene Therapy, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy;5. Department of Pediatric Hematology and Oncology and Cell and Gene Therapy, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, Rome, Italy |
| Abstract: | We describe the first case of bridge therapy in alpha-mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre- and peri-transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post-HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl-oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC–MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms. |
| Keywords: | enzyme replacement therapy hematopoietic stem cell transplantation mannosyl-oligosaccharides velmanase alfa |